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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Wang, Yangong; Xu, Yiran; Zhou, Chongchen; Cheng, Ye; Qiao, Niu; Shang, Qing; Xia, Lei; Song, Juan; Gao, Chao; Qiao, Yimeng; Zhang, Xiaoli; Li, Ming; Ma, Caiyun; Fan, Yangyi; Peng, Xirui; Wu, Silin; Lv, Nan; Li, Bingbing; Sun, Yanyan; Zhang, Bohao; Li, Tongchuan; Li, Hongwei; Zhang, Jin; Su, Yu; Li, Qiaoli; Yuan, Junying; Liu, Lei; Moreno-De-Luca, Andres; MacLennan, Alastair H; Gecz, Jozef; Zhu, Dengna; Wang, Xiaoyang; Zhu, Changlian; Xing, Qinghe.
Afiliación
  • Wang Y; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Xu Y; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Zhou C; Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
  • Cheng Y; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Qiao N; Shanghai Center for Women and Children's Health, Shanghai, China.
  • Shang Q; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, National Research Center for Translational Medicine (Shanghai), and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
  • Xia L; Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
  • Song J; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Gao C; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Qiao Y; Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
  • Zhang X; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Li M; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Ma C; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Fan Y; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Peng X; Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
  • Wu S; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Lv N; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Li B; Department of Neurosurgery, The Affiliated Zhongshan Hospital of Fudan University, Shanghai, China.
  • Sun Y; Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
  • Zhang B; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Li T; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Li H; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Zhang J; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Su Y; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Li Q; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Yuan J; Shanghai Center for Women and Children's Health, Shanghai, China.
  • Liu L; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Moreno-De-Luca A; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • MacLennan AH; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
  • Gecz J; Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
  • Zhu D; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.
  • Wang X; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Zhu C; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Xing Q; Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Nat Med ; 30(5): 1395-1405, 2024 May.
Article en En | MEDLINE | ID: mdl-38693247
ABSTRACT
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia (P = 0.0033). Also, 33 children with CP manifestations (8.5%, 33 of 387) had findings that were clinically actionable. These results highlight the need for early genetic testing in children with CP, especially those with risk factors like perinatal asphyxia, to enable evidence-based medical decision-making.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Cerebral / Heterogeneidad Genética / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Cerebral / Heterogeneidad Genética / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: China